Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Lethal congenital contracture syndrome type 2 |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lethal congenital contracture syndrome type 3 (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Foot joint - range of movement |
Is a |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hand joint range of movement (observable entity) |
Is a |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Inherited arthrogryposis |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
X-linked lethal multiple pterygium syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lethal congenital contracture syndrome type 5 |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant multiple pterygium syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Distal arthrogryposis type 5D (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital neuropathy with arthrogryposis multiplex congenita |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Camptobrachydactyly (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Contracture of joint |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Digitotalar dysmorphism |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
On examination - reduced joint movement |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
On examination - reduced movement of spine |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
On examination - reduced movement of arm |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Contracture of multiple joints |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and carp-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Contracture of joint following injury (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Lethal congenital contracture syndrome type 1 (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital arthrogryposis caused by teratogen (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
On examination - reduced movement of wrist |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Temporomandibular joint stiff |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Arthrogryposis and ectodermal dysplasia syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Kuskokwim syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital contractural arachnodactyly |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Multiple stiff joints (finding) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Morning stiffness - joint |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Marfanoid joint hypermobility syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypermobility of joint |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke |
Interprets |
False |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Distal arthrogryposis type 3 (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Prenatal-onset spinal muscular atrophy with congenital bone fractures |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
NIMA related kinase 9 lethal skeletal dysplasia (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Spondyloepiphyseal dysplasia Stanescu type |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Arthrofibrosis |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypermobility syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ehlers-Danlos syndrome, type 3 |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Generalized benign joint hypermobility |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Localised benign joint hypermobility |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Myopathic Ehlers-Danlos syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Classical-like Ehlers-Danlos syndrome type 2 |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Antenatal multi-minicore disease with arthrogryposis multiplex congenita |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Diastrophic dysplasia |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures. |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pena-Shokeir syndrome type I (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Marden Walker syndrome (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Microphthalmia, microtia, fetal akinesia syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Hecht syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital muscular dystrophy with arthrogryposis multiplex congenita |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital amyoplasia |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ehlers-Danlos and osteogenesis imperfecta syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Spondyloepimetaphyseal dysplasia with joint laxity Beighton type (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Congenital pontocerebellar hypoplasia type 12 |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Alkuraya Kucinskas syndrome |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Progressive flexion contracture of joint (disorder) |
Interprets |
True |
Range of joint movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |